| An Anesthetic Experience in a Patient with Menkes Disease: A case report. |
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Helen Ki Shinn, Hong Sik Lee, Young Deog Cha, Jae Hak Lee, Hyun Zu Kim, Jang Ho Song |
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Department of Anesthesiology and Pain Medicine, College of Medicine, Inha University, Incheon, Korea. snoguy@freechal.com |
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| Abstract |
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Menkes disease, so-called kinky hair disease or steely hair disease, is a rare X-linked recessive disorder of intracellular copper transport protein ATP7A defect, due to mutation of ATP7A gene, resulting in copper deficiency. It is characterized by seizure, retarded neurological development, kinky hair, skeletal abnormality, recurrent infection and subnormal body temperature. In addition, gastroesophageal reflux with the risk of aspiration is another important feature. This article is the first report of anesthetic management in a patient with Menkes disease who underwent gastrostomy and bladder diverticulectomy in Korea. |
| Key Words:
copper deficiency; copper-dependent enzyme; kinky hair disease; Menkes disease |
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